Klinische Monatsblätter für Augenheilkunde, Inhaltsverzeichnis Klin Monbl Augenheilkd 2013; 230(3): 221-222DOI: 10.1055/s-0032-1328289 Editorial Georg Thieme Verlag KG Stuttgart · New York Augenheilkunde und Genetik Ophthalmology and Genetics Günther Rudolph Artikel empfehlen Abstract Artikel einzeln kaufen Volltext Referenzen Literatur 1 Nathans J, Zhomas D, Hogness DS. Molecular genetics of human color vision: The genes encoding blue, grenn and red pigments. Science 1986; 232: 193-202 2 Best F. Über eine hereditäre Maculaaffektion: Beiträge zur Vererbungslehre. Z Augenheilkd 1905; 13: 199 3 Suzuki S, Yamane T, Mohr M et al. Selective ophthalmic arterial injection therapy of intraocular retinoblastoma: the long-term prognosis. Ophthalmology 2011; 118: 2081-2087 4 Usher C. Bowmanʼs lecture: on a few hereditary eye affections. Trans Ophthalmol Soc UK 1935; 55: 164-245 5 Knudson AG. Mutation and cancer: Statistical study of retinoblastoma. PNAS 1971; 68: 820-823 6 Friend SH, Bernards R, Rogelji S et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986; 323: 643-646 7 Stargardt K. Über familiäre, progressive Degeneration in der Maculagegend des Auges. Albrecht von Graefes Arch Klein Ophthalmol 1909; 7: 534-550 8 Hagemann GS, Anderson DH, Allikmets R et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age related macular degeneration. Proc Natl Acad Sci USA 2005; 102: 7227-7232 9 Rivera A, Fisher SA, Weber BHF et al. Hypothetical LOC387715 is asecond major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 2005; 14: 3227-3236 10 Schuster SC. Next-generation sequencing transforms todays biology. Nature Methods 2008; 5: 16-18 11 Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leberʼs congenital amaurosis. N Engl J Med 2008; 358: 2231-2239 12 Hauswirth WW, Aleman T, Jacobson SG et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short term results of a phase I trial. Human Gene Therapy 2008; 19: 979-990 13 Maguire AM, Simonelli F, Pierce EA et al. Safety and efficacy of gene transfer for Leberʼs congenital amaurosis. N Engl J Med 2008; 358: 2240-2248
